Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Pro124Leu (p.P124L)
(
ENST00000291582.6 )
AIRE p.Pro124Leu (p.P124L) ( ENST00000291582.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) AND not specified
- ClinVar Allele ID
- 44329
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.371C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002509170
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs